Allele Registry

Canonical Allele Identifier: PA2827753217

Gene: SCN1A HGNC NCBI

ClinVar Allele:

516552

ClinVar RCV:

RCV000636329

RCV001091664

ClinVar Variation:

530454

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Leu1351Pro	CA349050683 NM_001353948.2:c.4052T>C